Scopus Eşleşmesi Bulundu
221
Cilt
🔓
Açık Erişim
Scopus Yazarları: Heather R. Jackson, Oliver Powell, Dominic Habgood-Coote, Samuel Nichols, Leire Estramiana Elorrieta, Giselle D’Souza, Kirsten B. Dummer, Frédéric Rieux-Laucat, Samya Chakravorty, Elie Haddad, Marie Paule Morin, Sefika Elmas Bozdemir, Yasemin Kendir-Demirkol, Belgin Gulhan, Tayfun Ozcelik, Zeynep Gökçe Gayretli Aydın, Mahdad Noursadeghi, Myrsini Kaforou, Jethro A. Herberg, Shen Ying Zhang, Michael Levin, Vanessa Sancho-Shimizu, Amedine Duret, Sophya Yeoh, Sobia Mustafa, Antonio Condino-Neto, Marisol Holanda Pena, Filomeen Haerynck, Özge Metin Akcan, Guillaume Morelle, Betul Sözeri, Saliha Kanik-Yuksek, Gulsum Iclal Bayhan, Osman Yesilbas, Alexandre Belot, Suzan A. AlKhater, Yuriy Stepanovskiy, Jiří Fremuth, Jan Lebl, Mark Peters, Lindsey Ann Edwards, Laurent Abel, Jean Laurent Casanova, Jane C. Burns, Adrian C. Hayday, Yoann Seeleuthner, Estelle Talouarn, Harsita Patel, Victoria J. Wright, Yu Lung Lau, Esmeralda Núñez Cuadros, Julie Toubiana, Melike Emiroglu, Aslinur Ozkaya-Parlakay, Emilie Chopin, Marketa Bloomfield, Cyril Cyrus, Anastasiia Bondarenko, Meltem Polat, Amyrath Geraldo, Michael J. Carter, Rebeca Pérez de Diego, Christopher Chiu, Chisato Shimizu, Melissa Shea Hamilton, Erica G. Schmitt, Aurora Pujol, Aurélie Cobat, Taco W. Kuijpers, Evangelos Bellos, Dilys Santillo, Pierre Vantourout, Henry Hearn, Stephanie Hodeib, Diego Estrada-Rivadeneyra, Adriana H. Tremoulet, Stejara A. Netea, Charles Edouard Luyt, Jean Louis Mége, Sevgi Keles, Gulsum Alkan, Sadiye Kubra Tuter Oz, Alla Volokha, Taner Coskuner, Aysun Yahsi, Nevin Hatipoglu, Vincent Barlogis, Esra Sevketoglu, Emin Menentoglu, Fatma Nur Öz, Emmanuelle Jouanguy, Paul Wellman, Alexandre Bolze, Agusti Rodriguez-Palmero, Jihoon Kim
Özet
Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, “burdenMC,” which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.2, 95% CI: 3.5-5.3, P < 10-6). BTNL8 encodes an intestinal epithelial regulator of Vγ4+γδ T cells implicated in regulating gut homeostasis. Enrichment was exclusive to MIS-C, being absent in patients with COVID-19 or bacterial disease. Using an available functional test for BTNL8, rare variants from a larger cohort of MIS-C patients (n = 835) were tested which identified eight variants in 18 patients (2.2%) with impaired engagement of Vγ4+γδ T cells. Most of these variants were in the B30.2 domain of BTNL8 implicated in sensing epithelial cell status. These findings were associated with altered intestinal permeability, suggesting a possible link between disrupted gut homeostasis and MIS-C-associated enteropathy triggered by SARS-CoV-2.
Anahtar Kelimeler (Scopus)
Human disease genetics
Infectious disease and host defense
Innate immunity and inflammation
Anahtar Kelimeler
Human disease genetics
Infectious disease and host defense
Innate immunity and inflammation
Makale Bilgileri
Dergi
Journal of Experimental Medicine
ISSN
0022-1007
Yıl
2024
/ 11. ay
Cilt / Sayı
221
Makale Türü
Özgün Makale
Hakemlik
Hakemli
Endeks
SCI-Expanded
JCR Quartile
Q1
Yayın Dili
İngilizce
Kapsam
Uluslararası
Toplam Yazar
763 kişi
Erişim Türü
Basılı+Elektronik
Erişim Linki
Makaleye Git
Alan
Temel Alan
YÖKSİS Yazar Kaydı
Yazar Adı
METİN AKCAN ÖZGE,KELEŞ SEVGİ,EMİROĞLU MELİKE,ALKAN GÜLSÜM,TÜTER ÖZ ŞADİYE KÜBRA,ELMAS BOZDEMİR ŞEFİKA,KENDİR DEMİRKOL YASEMİN,SÖZERİ BETÜL,Coskuner Taner,YAHŞİ AYSUN,GÜLHAN BELGİN,KANIK YÜKSEK SALİHA,BAYHAN GÜLSÜM İCLAL,ÖZKAYA PARLAKAY ASLI NUR,YEŞİLBAŞ OSMAN,HATİPOĞLU NEVİN,ÖZÇELİK HASAN TAYFUN,ŞEVKETOĞLU ESRA,MENENTOĞLU MEHMET EMİN,GAYRETLİ AYDIN ZEYNEP GÖKÇE,ÖZ FATMA NUR,POLAT MELTEM,ERDENİZ EMİNE HAFİZE,KARBUZ ADEM,TANIR GÖNÜL,TEMEL G ŞEHİME
YÖKSİS ID
8241059
Hızlı Erişim
Metrikler
JCR Quartile
Q1
Yazar Sayısı
763